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| http://dx.doi.org/10.4103/aian.aian_755_21 | DOI Listing |
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J Paediatr Child Health
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Department of Ophthalmology, Habib Thameur hospital, Tunis, Tunisia.
Oculodigital Sign: A Clinical Clue for Diagnosis.
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Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India.
Multiple retinal astrocytic hamartomas in siblings with lebers congenital amaurosis: a case series and review of literature.
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Article Synopsis
- Leber's congenital amaurosis (LCA) is a hereditary retinal disease that leads to significant vision impairment and is characterized by specific symptoms like nystagmus and reduced electroretinograms.
- A rare case was presented involving two siblings diagnosed with LCA who also developed retinal astrocytic hamartomas (RAH), despite no known links between these conditions.
- Advanced retinal imaging techniques, such as Infrared imaging (IRI) and Optical coherence tomography (OCT), have improved the detection of subtle RAH cases.
Intraocular Lens Dislocation into the Anterior Chamber because of Repeated Eye-Poking in a Patient with Leber's Congenital Amaurosis.
Case Rep Ophthalmol
January 2020
King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
The dislocation of a posterior chamber intraocular lens (PC IOL) because of constant eye rubbing is unusual and has never been reported in a child with Leber's congenital amaurosis (LCA). A 4-year-old full-term girl with an ocular history of LCA presented to the emergency room with a single-piece PC IOL dislocated into the anterior chamber (AC) of the left eye. There was no history of trauma or any other surgical intervention.
View Article and Find Full Text PDFA Novel Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis.
Fetal Pediatr Pathol
June 2020
Sanliurfa Research and Training Hospital, Sanliurfa, Turkey.
: Leber congenital amaurosis (LCA) is a subgroup of early onset retinal dystrophy, manifesting with early or congenital visual loss, wandering nystagmus, amaurotic pupils, oculodigital sign, reduced retinal thickness on optical coherence tomography and abnormal electroretinogram. Today, mutations of about 25 genes account for 80% of individuals with LCA. The mutations causing LCA type 4 account for about 5-10% of this group.
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